Bloom Thea, Bonini Katherine E, Gutierrez-Kapheim Melissa, Kinsley Lisa M, Smith Maureen E, Duquette Debra
Center for Genetic Medicine, Northwestern University, Chicago, Illinois, USA.
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
J Genet Couns. 2025 Apr;34(2):e1934. doi: 10.1002/jgc4.1934. Epub 2024 Jun 9.
Despite concerted and accelerated efforts to increase the knowledge of medicine and disease via clinical studies, clinical trials continue to face low enrollment for all patient groups. The dissemination of the availability of clinical trials to individuals with or at risk for hereditary disorders is critical. This study acts as a foundation in determining an unexplored role of clinical trial discussion in genetic counseling practice. Board-certified, patient-facing genetic counselors in the United States were invited to participate in an anonymous survey via the National Society of Genetic Counselors. Between February and April 2022, 157 participants (N = 157) completed the survey on clinical trial discussion with patients, barriers, and facilitators to discussing clinical trials with patients, research experience, and demographics. Survey results identified that most respondents have discussed the availability of clinical trials with a patient (85%). Almost one-third have previous research experience working for a clinical trial (30%). Most agreed that discussions of clinical trials are within the scope of genetic counseling (82%); however, one-third were not comfortable discussing them with patients (34%). Respondents who know how to find specific clinical trials (p < 0.001) were reportedly more likely to be comfortable discussing clinical trials with their patients. In addition to clinical research exposure, this study suggests that further education and training is necessary for genetic counselors to learn how to find and identify specific clinical trials for their patients. In turn, we hope for this to increase genetic counselors' comfort of clinical trial discussion.
尽管通过临床研究为增加医学和疾病知识做出了协同且加速的努力,但各类患者群体参与临床试验的人数仍然较少。向患有遗传性疾病或有患遗传性疾病风险的个体传播临床试验信息至关重要。本研究为确定临床试验讨论在遗传咨询实践中尚未被探索的作用奠定了基础。美国获得委员会认证、面向患者的遗传咨询师受邀通过美国遗传咨询师协会参与一项匿名调查。在2022年2月至4月期间,157名参与者(N = 157)完成了关于与患者进行临床试验讨论、与患者讨论临床试验的障碍和促进因素、研究经验及人口统计学特征的调查。调查结果显示,大多数受访者(85%)曾与患者讨论过临床试验的信息。近三分之一的人此前有过参与临床试验研究的经验(30%)。大多数人认为讨论临床试验属于遗传咨询的范畴(82%);然而,三分之一的人(34%)不太愿意与患者讨论临床试验。据报道,知道如何查找特定临床试验的受访者(p < 0.001)更有可能愿意与患者讨论临床试验。除了临床研究经验外,本研究表明,遗传咨询师需要接受进一步的教育和培训,以学习如何为患者查找和识别特定的临床试验。相应地,我们希望这能提高遗传咨询师对临床试验讨论的舒适度。